PEX11A
Peroxisomal Biogenesis Factor 11 Alpha
Gene Information Card
| Symbol | PEX11A |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 11 Alpha |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q26.3 |
| NCBI Gene ID | 8800 ncbi.nlm.nih.gov/gene/8800 |
| Ensembl ID | ENSG00000166821 |
| UniProt ID | O75192 |
| OMIM ID | 603866 |
| HGNC ID | 8853 |
| Aliases | PEX11-alpha, PEX11A1, PEX11alpha |
Description
PEX11A encodes a peroxisomal membrane protein involved in peroxisome biogenesis and division. It promotes peroxisome elongation and fission, and is essential for maintaining peroxisome number and morphology. Mutations in PEX11A are associated with peroxisomal biogenesis disorders, including Zellweger syndrome spectrum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisome biogenesis disorder 14B (PBD14B) | Loss-of-function mutations impair peroxisome division, leading to reduced peroxisome number and metabolic dysfunction. | ClinVar: pathogenic variants (e.g., c.1A>G, p.Met1Val) reported in patients with Zellweger syndrome. |
| Zellweger syndrome spectrum | Defective PEX11A disrupts peroxisomal membrane elongation, causing severe neurological and hepatic abnormalities. | OMIM #603866; multiple case studies with biallelic PEX11A mutations. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.4 | Hepatocellular carcinoma line; high expression |
| HEK293 | 7.2 | Embryonic kidney; moderate expression |
| SH-SY5Y | 4.1 | Neuroblastoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon; predicted to abolish protein translation. |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop; loss of function. |
| c.347_348del (p.Glu116Valfs*3) | Frameshift | Rare | Frameshift leading to truncated protein. |
Mutation functional classification
Loss of Function (LOF)
Most reported PEX11A mutations are loss-of-function, impairing peroxisome division and biogenesis.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • peroxisomal membrane (GO:0005778) | • integral component of peroxisomal membrane (GO:0005779) |
| • lipid binding (GO:0008289) | • peroxisome fission (GO:0016559) |
| • peroxisome division (GO:0042769) | • positive regulation of peroxisome proliferation (GO:1903955) |
Pathways
• Peroxisome biogenesis (Reactome: R-HSA-9033241)
• Peroxisomal protein import (Reactome: R-HSA-9033500)
Protein Summary
PEX11A is a 247-amino acid peroxisomal membrane protein with two transmembrane domains. It self-interacts and recruits dynamin-related proteins (e.g., DLP1) to drive peroxisome elongation and fission. The protein is critical for peroxisome proliferation in response to metabolic demands.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX11A Knockout HEK293 Cell Line | EDJ-KQ6366 | Human | 8800 | Details Get a Quote |
| PEX11A Knockout A-549 Cell Line | EDJ-KQ30337 | Human | 8800 | Details Get a Quote |
| PEX11A Knockout HCT 116 Cell Line | EDJ-KQ30338 | Human | 8800 | Details Get a Quote |
| PEX11A Knockout HeLa Cell Line | EDJ-KQ30339 | Human | 8800 | Details Get a Quote |
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